D43E (p.Asp43Glu) variant of SLC6A1 (P30531)
D43E (p.Asp43Glu) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- rs371207948
- ESP rs371207948
- ExAC rs371207948
- TOPMed rs371207948
- Likely benign
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.10
- CADD 9.92
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Likely benign (Epilepsy with myoclonic atonic seizures)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)